People with intersex variations, also called disorders of sex development, have hormonal, genetic, or anatomical differences unexpected of an endosex (non-intersex) male or female. These can include, but are not limited to, reproductive organs with a mix of male and female structures, underdeveloped reproductive organs, and rare sex chromosomes or chromosomes unexpected of one's sex.
The healthcare needs of intersex people differ depending on which variations they have. Some intersex variations can cause a lack of sex hormones, infertility, or an increased risk of cancer. Intersex people have a higher risk of experiencing mental health issues like depression and PTSD compared to the general population.
Healthcare for intersex people can include treatments for one's mental, cognitive, physical, and sexual health. This can include hormone replacement, peer support, medical assistance for conceiving children, and other treatments depending on the needs of the individual. Intersex conditions are diagnosed prenatally (before birth), at birth, or later in life via genetic and hormone testing as well as medical imaging.
Intersex healthcare often comes with additional challenges compared to healthcare for endosex people. This is due to stigma and medical abuse towards intersex people, lack of intersex inclusion in medical research, and lack access to supportive and specialized care. Intersex healthcare has historically focused on making intersex people fit into physical and social norms for one's sex. This includes concealing information from patients and medically unnecessary surgeries. Intersex organizations advocate to end these practices and make further changes to respect and include intersex people. The medicalization of intersex variations and the use of the term "disorders of sex development" are disputed as well.
Presentation and diagnosis
Variations of sex characteristics, also called intersex or disorders in sex development, refer to people with innate genetic, hormonal, or physical sex characteristics outside of medical norms for males or females. It refers to a wide spectrum of variations to genitals, hormones, chromosomes, and/or sex characteristics." Intersex variations can result in a combination of male and female structures, such as having both a uterus and testes; atypical genital appearance, such as a closed vagina; or missing or underdeveloped reproductive organs, such as a vaginal opening with no womb. Other characteristics include the presence of micropenis, hypospadias, urethra opening into the vagina, partly fused labia, large clitoris, electrolyte imbalance, undescended testes, and masses in the labia or groin for females. Some intersex variations may result in genitals expected of one's sex, but differing chromosomes, such as having only a single X chromosome (Turner syndrome) or XXY chromosomes (Klinefelter syndrome). Up to 1.7% of the general population is estimated to be intersex. The cause of one's intersex variation is often unknown. Some intersex variations can be inherited from a child's parents; for example, congenital adrenal hyperplasia (CAH) can be inherited if both parents have a copy of the affected gene.
The same intersex variation can have different presentations or severity. Androgen insensitivity syndrome (AIS) has 3 forms: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). CAIS makes the body unable to respond to androgens, while PAIS and MAIS lead to the body having partial sensitivity to androgens. Those with CAIS present with female genitals but no womb or ovaries and those with MAIS have male genitals but are often infertile. Those with PAIS can present with male genitals, female genitals, or ambiguous genitals.
CAH has different variants as well. 90 percent of cases take the form of 21-hydroxylase deficiency, also known as CAH 1, but there are more uncommon variations such as 11β-hydroxylase deficiency and 17α-hydroxylase deficiency depending on which gene is affected. CAH 1 can have either a classical or nonclassical presentation. Classical CAH takes the form of salt-wasting or simple virilization. Three quarters of classical CAH cases involve salt imbalance causing symptoms such as vomiting, dehydration, and low blood pressure. One quarter of classical CAH cases include simple virilization (ambiguous or male external genitals with female reproductive organs). Nonclassical CAH results in typical female genitals, but presents symptoms later in life including early puberty, irregular periods, infertility, hirsutism and hyperandrogenism (excessive male hormones).
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) has two types which can produce different presentations. Type 1 only impacts the reproductive organs causing a lack of a uterus and cervix as well as a shallow vagina. Symptoms for type 1 MRKH are noticed at adolescence or adulthood, often due to the lack of a period. Type 2 MRKH produces symptoms in other parts of the body rather than only the reproductive organs. People born with type 2 MRKH may have heart defects, hearing loss, atypical vertebrae, abnormally formed kidneys, or only one kidney. These congenital anomalies are evaluated via MRI or transabdominal ultrasonography.
Intersex variations are diagnosed using physical exams, genetic testing, hormonal testing, and medical imaging or laparoscopy. Getting a diagnosis by evaluating the individual's DNA molecules is preferred for future medical predictions, but is not always possible. Intersex variations may become apparent at birth, during puberty, or while trying to have children. Intersex variations may cause a delay in puberty, absence of puberty, or bodily changes unexpected for one's perceived sex. Genetic counsellors can help an intersex person or their family understand their diagnosis and its genetic impacts on health.
Some intersex variations can be detected before birth. Screening cell-free DNA (DNA fragments found in bodily fluids like plasma) can detect if a fetus has Turner syndrome or Klinefelter syndrome. Ultrasounds may show ambiguous genitalia or genitals that do not match what is expected based on the sex chromosomes found in the cell-free fetal DNA screening. For those using in vitro fertilization, genetic testing before an embryo is implanted can detect intersex variations such as congenital adrenal hyperplasia and androgen insensitivity syndrome. 21-hydroxylase deficiency can be treated during pregnancy using a medication called dexamethasone to prevent ambiguous genitalia.
Sometimes an intersex variation may never be diagnosed. Most infants with intersex variations are born with either male or female genitals and assigned a binary sex. Intersex people with ambiguous genitals are uncommon (1 in 2000 births).
Medical characterization and nomenclature
Hermaphrodite and related terminology The term "hermaphrodite", originating from the Greek god Hermaphroditus, was previously used to describe intersex people. The word first entered the English language in the 1398 translation of De proprietatibus rerum (English: On the Properties of Things); it was used to describe animals with "unperfect" combinations of male and female traits. In the 1700s, it became used to describe plants and certain species of worms and molluscs that had both male and female reproductive organs. When the term was used to describe people or more complex animals, it evoked the idea of a horrid deformity. The term was also used to describe masculine women or feminine men, such as Sir Robert Wilson's 1803 journal entry about "The revolting hermaphrodisy of the 'blue stocking' [highly educated women]."
Intersex bodies became a subject of scientific fascination in the 1800s, with a desire to find bodies that were both fully reproductively male and female; this pursuit was never achieved. Human sexes became categorized into five types: male, female, male psuedohermaphodite, female psuedohermaphrodite, and true hermaphrodite. Female pseudohermaphrodites were people who had ovaries, XX chromosomes, and virilized external genitals such as an enlarged clitoris or labia majora that resembles a scrotum. Male pseudohermaphrodites were people with testes and XY chromosomes that are not fully virilized with features such as a small penis or a perineal hypospadia. People under the label of true hermaphrodites had both male and female gonadal tissue.
Classifying sex solely by gonads is viewed as inaccurate following research from the mid-1900s onward. Embryological experiments discovered that sex development has two phases: sex differentiation, the development of external genitals, and sex determination, the orientation of originally undifferentiated gonads. The old classification system also has the potential to assign incongruent gender-labelling, such as labeling someone who has a feminine appearance and gender identity as a male psuedohermaphrodite.
Pseudohermaphrodism was removed as a diagnostic category from the ICD-11, and true hermaphrodism was replaced with the term "ovotesticular DSD". While the word "hermaphrodite" has been reclaimed by some intersex people, it generally should be avoided according to the Intersex Society of North America. It can imply that people can be born with two sets of genitals, something which is not possible, and additional labels like "pseudo" and "true" can imply authenticity or lack thereof. It is also associated with the paraphillia of those who seek sexual gratification from someone who is both a man and woman.
DSD, VSC, and intersex The term "disorders of sex development", often abbreviated as DSD, is contentious as some organizations and intersex advocates believe that being intersex should not be pathologized. For instance, Planned Parenthood describes being intersex as a "naturally occurring variation" rather than a medical problem. Professor Elizabeth Reis supports changing disorders of sex development to divergence of sex development, writing that "using divergence, intersex people would not be labeled as being in a physical state absolutely in need of repair." DSD is sometimes used to abbreviate differences of sex development rather than disorders of sex development.
Some parents of intersex children prefer the term "disorders of sex development" because the term intersex evokes ideas of sexuality or that their child is a third gender rather than a boy or girl. Some people with intersex variations prefer using DSD instead of intersex because they see their variation as a medical condition rather than an identity. 60 percent of Australian intersex people prefer the term "intersex" or a related term such as "intersex variation", and 3 percent prefer the term "disorder of sex development" outside of seeking medical care.
The term "intersex" has been criticized by clinicians and parents who believe the term only applies to those with ambiguous genitals or whose chromosomes and anatomy do not align. Disagreement remains over which variations should be considered intersex. Variations of sex characteristics, sometimes abbreviated as VSC, is an alternative term used to avoid the stigma associated with DSD. It is supported by some advocates to express a spectrum of sex variations and include people who prefer not to identify as intersex.
Classifying intersex